research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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390-420 / 1000+ results research Skin precancer.
Sun exposure and genetics increase skin cancer risk from precancerous lesions.
research GABRA2 Alleles Moderate the Subjective Effects of Alcohol, Which are Attenuated by Finasteride
GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Endocrine intervention for transsexuals
Hormone treatment for transsexual individuals is effective but carries risks like thromboembolic events and mood changes, with most side effects being minor and reversible.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Genome wide association analysis of root hair traits in rice reveals novel genomic regions controlling epidermal cell differentiation
Scientists found new genetic areas that affect how rice root hairs grow and develop.
research [Wooly hair syndrome. Clinical and microscopic study].
Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
research Synopsis: 2005 Annual Meeting of the American Society of Andrology
The meeting highlighted promising genetic treatments for male fertility issues but noted concerns about certain cancer risks and ICSI safety.
research Personalized Hair Care Leveraging Genomic Variation for Optimal Hair Health
Tailored treatments based on genetics improve hair health.
research Tracing the cellular origin of cancer
Understanding where cancer cells come from helps create better prevention and treatment methods.
research Skin Pigmentation Types, Causes and Treatment—A Review
Skin pigmentation varies due to genetics, UV exposure, and drugs, with treatments available but requiring medical advice.
research A Comprehensive Review on Skin Pigmentation-Types, Causes, and Treatment
Skin pigmentation varies due to genetics, UV exposure, and medications, with treatments available but requiring medical advice.
research Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases
Thiopurines help treat IBD but require genetic testing to avoid side effects.
research From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research A Pharmacogenetic Survey of Androgen Receptor (CAG)N and (GGN)N Polymorphisms in Patients Experiencing Long Term Side Effects after Finasteride Discontinuation
Longer CAG and GGN repeats increase alopecia risk, but no significant link to post-finasteride syndrome found.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research SnapshotDx Quiz: August 2019
The research found that male pattern hair loss is mostly genetic and involves hair thinning due to hormonal effects and changes in gene expression.
research The developmental basis of fingerprint pattern formation and variation
Fingerprints form uniquely before birth due to specific genetic pathways and local signals.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.